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Metadata
ID DOID:0111485
Name combined oxidative phosphorylation deficiency 24
Definition A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1.
https://www.ncbi.nlm.nih.gov/pubmed/25385316, https://www.ncbi.nlm.nih.gov/pubmed/28077841, https://www.ncbi.nlm.nih.gov/pubmed/25629079
Xrefs

MIM:616239

ORDO:444458

Subsets

DO_rare_slim

Synonyms

COXPD24 [EXACT]

Parent Relationships

is_a combined oxidative phosphorylation deficiency

is_a autosomal recessive disease

Subclass Logical Relationships

has phenotype some Neurodevelopmental delay

has material basis in some autosomal recessive inheritance

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